| Familial polyposis coli: heterogeneous polyp expression in 2 kindreds. |
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| The Genetic Approach to Human Disease |
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| Trisomy 20p from maternal t(3;20) translocation. |
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| The Prader-Willi syndrome with a 15/3 translocation. |
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| The Genetics of Aging |
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| Inherited Disorders of the Skeleton |
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| X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci. |
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| Autosomal recessive sudden unexpected death in children probably caused by a cardiomyopathy associated with myopathy. |
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| Linkage studies in hereditary angio-oedema. |
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| Heterochromatic polymorphism in spontaneous abortions. |
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| Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis. |
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| Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia. |
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| Heterogeneity of sickle cell anaemia in Arabs: review of cases with various amounts of fetal haemoglobin. |
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| Association of glucose-6-phosphate dehydrogenase deficiency with diabetes mellitus in ethnic groups of Singapore. |
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| Beta-thalassaemia: increased chromosomal anomalies in lymphocyte cultures. |
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| Familial partial 14 trisomy. |
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| The Hemoglobinopathies. Techniques of Identification: Clinical and Biochemical Analysis, Vol. 6 |
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| Dermatoglyphics. An International Bibliography |
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| Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. |
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| Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis. |
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| Errata |
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| Medical Genetic Studies of the Amish. Selected Papers |
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| The Study of Man. An Introduction to Human Biology 2nd Edition |
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| Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter). |
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| Professor D. G. Harnden |
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| Benign familial haematuria in children from the Jewish communities of Israel: clinical and genetic studies. |
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| Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement. |
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| Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene. |
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| Meiosis in two human reciprocal translocations. |
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| Variation in chromosome 19. |
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| Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women. |
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| Paternal age effect in fibrodysplasia ossificans progressiva. |
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| Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. |
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| Covesdem syndrome. |
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| Genetic and environmental variation in serum lipoproteins in relation to coronary heart disease |
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| Guidelines for cytogenetic case reports |
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| Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems. |
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| Triple mosaicism 45,XY,--18/46, XY/47,XY,+18. |
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| Blood Groups and Diseases. A Study of Associations of Diseases with Blood Groups and Other Polymorphisms. Oxford Monographs on Medical Genetics |
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| The Eukaryotic Chromosome |
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| A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome. |
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| Meiotic and radiation studies in four oligochiasmatic men. |
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| Globin chain synthesis in sickle beta-thalassaemic bone marrow and reticulocytes. |
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| Years of life lost through Down's syndrome. |
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| Autosomal recessive lipid storage myopathy (probable carnitine deficiency). |
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| Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze. |
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| Familial caudal regression anomalad and maternal diabetes. |
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| Inbreeding effects on fertility and sterility in southern India |
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| Extra small metacentric chromosome identified as i(18p). |
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| Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages. |
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| Neural tube malformations: complex segregation analysis and calculation of recurrence risks. |
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| Introduction to Biological Scanning Electron Microscopy |
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| Inherited anaemias in the Greek community of Cape Town. |
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✓ |
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Greek community |
| May spina bifida result from an X-linked defect in a selective abortion mechanism? |
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| Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1. |
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| X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency. |
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| Normal phenotype and partial trisomy for the G positive region of chromosome 21. |
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| 46,XY/45,X mosaicism in an amniotic fluid cell culture: suppression of abnormal cell line after subcultivation. |
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| G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C. |
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| Sexes of affected cases in sibships containing two or more members with anencephaly or spina bifida. |
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| Night blindness, characteristic facies, and skeletal abnormalities in two brothers. |
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| Trisomy 16q arising from a maternal 15p;16q translocation. |
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| De novo interstitial deletion del(1)(p21p32). |
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| Medical genetics in China. |
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| Genetic polymorphisms in diabetics and non-diabetics. |
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| Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum. |
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| The sex ratio in spina bifida. |
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| Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. |
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| A case of partial trisomy 17 resulting from X-autosomal translocation. |
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| Hereditary aspects of duodenal ulceration: pepsin 1 secretion in relation to ABO blood groups and ABH secretor status. |
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| A case of complete testicular feminisation and 47,XXY karyotype. |
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| Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child? |
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| Tissue typing amniotic fluid cells: potential use for detection of contaminating maternal cells. |
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| The 9p-syndrome. |
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| Cystic fibrosis in Northern Ireland. |
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| Trisomy 13 and extended survival. |
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| Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome). |
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| No increased chromosome breakage in three Bloom's syndrome heterozygotes. |
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| Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis. |
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| British Medical Bulletin: The HLA System |
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| Basic Immunogenetics 2nd Edition |
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| Use of chromosomal translocations with in situ DNA hybridisation to confirm localisation of human 5S ribosomal RNA genes. |
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| Congenital horizontal gaze palsy and kyphoscoliosis in two brothers. |
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| Re-evaluation of CHANDS. |
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| Two children with partial trisomy for 7p. |
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| A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat. |
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| Genetics and Ophthalmology |
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| Trisomy 5p syndrome. |
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| Single crease on the 5th finger in medical disorders and in normal population. |
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| Genetic control of severe pre-eclampsia. |
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| In vitro studies on adenomatosis of the colon and rectum. |
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| Congenital hypothyroidism in Klinefelter's syndrome. |
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| Prolonged P-R interval in a male with 47,XYY karyotype. |
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| Classification and identification of inherited brachydactylies |
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| Serum creatine kinase levels in normal females. |
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| Abnormal children of a 47,XYY father. |
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| Genetic heterogeneity in osteogenesis imperfecta. |
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| A presumptive new variant of Norrie's disease. |
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| Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. |
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| Two cases with different deletions of the long arm of chromosome 7. |
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| Anencephaly with diaphragmatic hernia in sibs. |
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| Symphalangism, short stature, skeletal anomalies, and accessory testis: a new malformation syndrome. |
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| A family study of renal agenesis |
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| Hepatitis--Bs antigen in an isolated Indian population of southern Venezuela: a family study. |
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| Studies in mice on the mutagenicity of two contraceptive drugs. |
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| Hereditary brachydactyly with nail dysplasia. |
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| The Rieger syndrome. |
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| Parental origin of triploidy and D and G trisomy in spontaneous abortions. |
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| Alpha-thalassaemia in Cyprus. |
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| 18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male. |
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| Hereditary neurocutaneous angioma: a new genetic entity? |
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| A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. |
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| Recessive anonychia totalis and dominant aplasia (or hypoplasia) of upper lateral incisors in the same kindred |
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| Foetus into Man. Physical Growth from Conception to Maturity |
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| The sex ratio in anencephaly. |
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| Textbook of Human Genetics 2nd ed |
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| Addendum |
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| Gaucher's disease in South Africa. |
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| Offspring of patients with tracheo-oesophageal fistula |
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| Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations. |
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| Erratum |
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| Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. |
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| Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations. |
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| Roberts's syndrome and clonidine. |
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